ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645505257
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
230841
ClinVar RCV Id:
RCV000221292
RCV000802642
RCV003316210
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asp2913Tyr
CA10579315
NM_000051.4:c.8737G>T